Incidental Mutation 'IGL02179:Nol11'
ID |
283229 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nol11
|
Ensembl Gene |
ENSMUSG00000018433 |
Gene Name |
nucleolar protein 11 |
Synonyms |
1500002M01Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.933)
|
Stock # |
IGL02179
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
107057489-107080207 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to G
at 107080082 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 1
(M1T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102368
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018577]
[ENSMUST00000106757]
|
AlphaFold |
Q8BJW5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000018577
AA Change: M1T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000018577 Gene: ENSMUSG00000018433 AA Change: M1T
Domain | Start | End | E-Value | Type |
SCOP:d1jmxb_
|
32 |
176 |
3e-3 |
SMART |
Pfam:NUC205
|
200 |
243 |
3.7e-26 |
PFAM |
low complexity region
|
619 |
629 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106757
AA Change: M1T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102368 Gene: ENSMUSG00000018433 AA Change: M1T
Domain | Start | End | E-Value | Type |
SCOP:d1jmxb_
|
32 |
176 |
3e-3 |
SMART |
Pfam:NUC205
|
200 |
243 |
7.3e-29 |
PFAM |
low complexity region
|
599 |
609 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119942
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136917
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139168
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abl1 |
C |
A |
2: 31,682,261 (GRCm39) |
A385D |
probably damaging |
Het |
Ace |
A |
G |
11: 105,860,615 (GRCm39) |
D174G |
probably benign |
Het |
Aldh1l2 |
A |
G |
10: 83,358,701 (GRCm39) |
V98A |
probably benign |
Het |
AU040320 |
T |
A |
4: 126,729,405 (GRCm39) |
F522L |
probably benign |
Het |
Ccdc73 |
A |
G |
2: 104,737,913 (GRCm39) |
D3G |
probably damaging |
Het |
Cdk14 |
A |
C |
5: 5,153,845 (GRCm39) |
L199V |
probably damaging |
Het |
Cdk15 |
G |
T |
1: 59,370,100 (GRCm39) |
A381S |
possibly damaging |
Het |
Cyb5a |
A |
G |
18: 84,891,280 (GRCm39) |
I68V |
probably benign |
Het |
Dock5 |
G |
A |
14: 68,043,945 (GRCm39) |
|
probably benign |
Het |
Fbxw24 |
T |
A |
9: 109,438,973 (GRCm39) |
K201* |
probably null |
Het |
Gm5852 |
C |
T |
3: 93,635,023 (GRCm39) |
|
noncoding transcript |
Het |
Gsdma3 |
A |
G |
11: 98,526,097 (GRCm39) |
K274E |
possibly damaging |
Het |
Hoxa7 |
T |
A |
6: 52,192,854 (GRCm39) |
Q178L |
probably damaging |
Het |
Itgae |
G |
T |
11: 73,024,844 (GRCm39) |
V992L |
probably benign |
Het |
Klk1b26 |
A |
G |
7: 43,665,736 (GRCm39) |
N183D |
probably benign |
Het |
Krt39 |
A |
T |
11: 99,411,667 (GRCm39) |
S140T |
probably damaging |
Het |
Lama2 |
G |
A |
10: 26,946,360 (GRCm39) |
T1953I |
probably benign |
Het |
Mmp1a |
G |
A |
9: 7,464,273 (GRCm39) |
R26Q |
probably benign |
Het |
Myh7b |
A |
C |
2: 155,456,411 (GRCm39) |
I175L |
probably benign |
Het |
Nrxn1 |
T |
A |
17: 90,937,511 (GRCm39) |
I641F |
probably damaging |
Het |
Or51ag1 |
A |
C |
7: 103,155,934 (GRCm39) |
L73R |
probably damaging |
Het |
Or8k3 |
A |
T |
2: 86,058,591 (GRCm39) |
C241* |
probably null |
Het |
Or9i2 |
T |
C |
19: 13,815,851 (GRCm39) |
T229A |
probably benign |
Het |
Parn |
G |
T |
16: 13,485,456 (GRCm39) |
H13Q |
probably benign |
Het |
Pcnx1 |
T |
C |
12: 81,980,493 (GRCm39) |
|
probably benign |
Het |
Pdcd10 |
T |
C |
3: 75,434,922 (GRCm39) |
D60G |
probably damaging |
Het |
Phka2 |
G |
A |
X: 159,337,376 (GRCm39) |
|
probably null |
Het |
Ppargc1a |
A |
T |
5: 51,631,053 (GRCm39) |
D525E |
possibly damaging |
Het |
Rad54l2 |
C |
A |
9: 106,597,589 (GRCm39) |
R139L |
probably damaging |
Het |
Rnf20 |
T |
C |
4: 49,638,712 (GRCm39) |
V178A |
probably benign |
Het |
Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
Sdccag8 |
C |
T |
1: 176,705,622 (GRCm39) |
H479Y |
probably benign |
Het |
Taf8 |
T |
C |
17: 47,813,158 (GRCm39) |
T13A |
probably benign |
Het |
Ttc8 |
T |
C |
12: 98,930,796 (GRCm39) |
L270P |
possibly damaging |
Het |
Ttn |
G |
A |
2: 76,717,712 (GRCm39) |
Q365* |
probably null |
Het |
Uchl1 |
A |
G |
5: 66,833,637 (GRCm39) |
Q2R |
probably benign |
Het |
Ufl1 |
A |
G |
4: 25,254,896 (GRCm39) |
V440A |
probably damaging |
Het |
|
Other mutations in Nol11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00646:Nol11
|
APN |
11 |
107,064,286 (GRCm39) |
missense |
probably benign |
|
IGL01656:Nol11
|
APN |
11 |
107,079,998 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01687:Nol11
|
APN |
11 |
107,077,695 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02538:Nol11
|
APN |
11 |
107,064,199 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03395:Nol11
|
APN |
11 |
107,066,548 (GRCm39) |
missense |
probably benign |
0.06 |
R0526:Nol11
|
UTSW |
11 |
107,075,597 (GRCm39) |
nonsense |
probably null |
|
R1734:Nol11
|
UTSW |
11 |
107,066,449 (GRCm39) |
missense |
possibly damaging |
0.80 |
R2143:Nol11
|
UTSW |
11 |
107,071,881 (GRCm39) |
missense |
probably benign |
0.03 |
R2385:Nol11
|
UTSW |
11 |
107,080,032 (GRCm39) |
missense |
probably benign |
0.40 |
R3036:Nol11
|
UTSW |
11 |
107,064,070 (GRCm39) |
missense |
possibly damaging |
0.87 |
R3522:Nol11
|
UTSW |
11 |
107,064,454 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3895:Nol11
|
UTSW |
11 |
107,059,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R4404:Nol11
|
UTSW |
11 |
107,064,551 (GRCm39) |
missense |
probably damaging |
1.00 |
R4664:Nol11
|
UTSW |
11 |
107,071,826 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4705:Nol11
|
UTSW |
11 |
107,075,544 (GRCm39) |
intron |
probably benign |
|
R5704:Nol11
|
UTSW |
11 |
107,064,195 (GRCm39) |
missense |
probably benign |
0.43 |
R5991:Nol11
|
UTSW |
11 |
107,061,971 (GRCm39) |
missense |
probably benign |
0.02 |
R6221:Nol11
|
UTSW |
11 |
107,062,442 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6222:Nol11
|
UTSW |
11 |
107,062,442 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6223:Nol11
|
UTSW |
11 |
107,062,442 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6285:Nol11
|
UTSW |
11 |
107,071,860 (GRCm39) |
missense |
probably benign |
0.01 |
R6467:Nol11
|
UTSW |
11 |
107,071,912 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7080:Nol11
|
UTSW |
11 |
107,070,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R7679:Nol11
|
UTSW |
11 |
107,064,142 (GRCm39) |
missense |
probably benign |
0.00 |
R7767:Nol11
|
UTSW |
11 |
107,069,908 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8831:Nol11
|
UTSW |
11 |
107,067,662 (GRCm39) |
missense |
probably benign |
|
R9063:Nol11
|
UTSW |
11 |
107,069,857 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9063:Nol11
|
UTSW |
11 |
107,064,240 (GRCm39) |
missense |
probably benign |
0.04 |
R9329:Nol11
|
UTSW |
11 |
107,071,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R9378:Nol11
|
UTSW |
11 |
107,064,505 (GRCm39) |
missense |
probably benign |
0.29 |
R9473:Nol11
|
UTSW |
11 |
107,075,581 (GRCm39) |
missense |
probably null |
0.81 |
R9515:Nol11
|
UTSW |
11 |
107,064,278 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9771:Nol11
|
UTSW |
11 |
107,069,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |